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Gurdasani, D.* ; Barroso, I.* ; Zeggini, E. ; Sandhu, M.S.*

Genomics of disease risk in globally diverse populations.

Nat. Rev. Genet. 20, 520–535 (2019)
Publ. Version/Full Text DOI
Open Access Green as soon as Postprint is submitted to ZB.
Risk of disease is multifactorial and can be shaped by socio-economic, demographic, cultural, environmental and genetic factors. Our understanding of the genetic determinants of disease risk has greatly advanced with the advent of genome-wide association studies (GWAS), which detect associations between genetic variants and complex traits or diseases by comparing populations of cases and controls. However, much of this discovery has occurred through GWAS of individuals of European ancestry, with limited representation of other populations, including from Africa, The Americas, Asia and Oceania. Population demography, genetic drift and adaptation to environments over thousands of years have led globally to the diversification of populations. This global genomic diversity can provide new opportunities for discovery and translation into therapies, as well as a better understanding of population disease risk. Large-scale multi-ethnic and representative biobanks and population health resources provide unprecedented opportunities to understand the genetic determinants of disease on a global scale.
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Publication type Article: Journal article
Document type Review
ISSN (print) / ISBN 1471-0056
e-ISSN 1471-0064
Quellenangaben Volume: 20, Issue: , Pages: 520–535 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)